威斯科特-奥尔德里奇综合征患者间隔九年成功进行升主动脉和降主动脉关键动脉瘤的手术修复：一例报告

Successful surgical repair of critical ascending and descending aortic aneurysms at nine-year intervals in Wiskott-Aldrich syndrome: A case report.

作者信息

Önalan Mehmet Akif, Altın Hüsnü Fırat, Çiçek Murat, Yurdakök Okan, Şaşmazel Ahmet

机构信息

Department of Pediatric Cardiac Surgery, Dr. Siyami Ersek Thoracic Heart and Vascular Surgery Training and Research Hospital, Istanbul, Türkiye.

出版信息

Turk Gogus Kalp Damar Cerrahisi Derg. 2023 Jan 30;31(1):123-127. doi: 10.5606/tgkdc.dergisi.2023.22506. eCollection 2023 Jan.

DOI:10.5606/tgkdc.dergisi.2023.22506

PMID:36926165

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10012987/

Abstract

Wiskott-Aldrich syndrome is an uncommon X-linked inherited disorder related to primary immunodeficiency, infections, eczema, and thrombocytopenia. A 21-year-old male patient with this syndrome underwent descending aortic aneurysm repair at the age of 12. The patient had ascending aortic aneurysm with aortic valve regurgitation and surgical aortic root replacement was performed. To the best of our knowledge, this is the first case with Wiskott-Aldrich syndrome operated due to aneurysms development in different segments of the thoracic aorta in both childhood and young adult periods.

摘要

威斯科特-奥尔德里奇综合征是一种罕见的X连锁遗传性疾病，与原发性免疫缺陷、感染、湿疹和血小板减少有关。一名患有该综合征的21岁男性患者在12岁时接受了降主动脉瘤修复术。该患者患有升主动脉瘤并伴有主动脉瓣反流，遂进行了主动脉根部置换手术。据我们所知，这是首例因胸主动脉不同节段在儿童期和青年期均出现动脉瘤而接受手术治疗的威斯科特-奥尔德里奇综合征病例。